Canonical Allele Identifier: CA626080581

Gene: BRCA1

Linked Data

• dbSNP Id: rs1341919835
• gnomAD v2: 17-41215062-C-T
• gnomAD v3: 17-43063045-C-T
• gnomAD v4: 17-43063045-C-T
• MyVariant Identifiers: chr17:g.41215062C>T (hg19) ; chr17:g.43063045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063045C>T , CM000679.2:g.43063045C>T	GRCh38
NC_000017.10:g.41215062C>T , CM000679.1:g.41215062C>T	GRCh37
NC_000017.9:g.38468588C>T	NCBI36
NG_005905.2:g.154939G>A , LRG_292:g.154939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5190+288G>A	ENSP00000417241.2:n.5190+288G>A
ENST00000470026.6:c.5193+288G>A	ENSP00000419274.2:n.5193+288G>A
ENST00000473961.6:c.5067+288G>A	ENSP00000420201.2:n.5067+288G>A
ENST00000476777.6:c.5187+288G>A	ENSP00000417554.2:n.5187+288G>A
ENST00000477152.6:c.5115+288G>A	ENSP00000419988.2:n.5115+288G>A
ENST00000478531.6:c.1881+288G>A	ENSP00000420412.2:n.1881+288G>A
ENST00000489037.2:c.5115+288G>A	ENSP00000420781.2:n.5115+288G>A
ENST00000493919.6:c.1743+288G>A	ENSP00000418819.2:n.1743+288G>A
ENST00000494123.6:c.5193+288G>A	ENSP00000419103.2:n.5193+288G>A
ENST00000497488.2:c.4305+288G>A	ENSP00000418986.2:n.4305+288G>A
ENST00000618469.2:c.5193+288G>A	ENSP00000478114.2:n.5193+288G>A
ENST00000634433.2:c.5070+288G>A	ENSP00000489431.2:n.5070+288G>A
ENST00000644379.2:c.5259+288G>A	ENSP00000496570.2:n.5259+288G>A
ENST00000644555.2:c.1743+288G>A	ENSP00000494614.2:n.1743+288G>A
ENST00000652672.2:c.5052+288G>A	ENSP00000498906.2:n.5052+288G>A
ENST00000484087.6:c.1755+288G>A	ENSP00000419481.2:n.1755+288G>A
ENST00000357654.9:c.5193+288G>A MANE Select	ENSP00000350283.3:n.5193+288G>A
ENST00000471181.7:c.5256+288G>A	ENSP00000418960.2:n.5256+288G>A
ENST00000644379.1:c.1580+288G>A
ENST00000352993.7:c.1767+288G>A	ENSP00000312236.5:n.1767+288G>A
ENST00000357654.7:c.5193+288G>A	ENSP00000350283.3:n.5193+288G>A
ENST00000461221.5:c.*4976+288G>A	ENSP00000418548.1:n.*4976+288G>A
ENST00000468300.5:c.1881+288G>A	ENSP00000417148.1:n.1881+288G>A
ENST00000471181.6:c.5256+288G>A	ENSP00000418960.2:n.5256+288G>A
ENST00000491747.6:c.1881+288G>A	ENSP00000420705.2:n.1881+288G>A
ENST00000493795.5:c.5052+288G>A	ENSP00000418775.1:n.5052+288G>A
ENST00000586385.5:c.123+288G>A	ENSP00000465818.1:n.123+288G>A
ENST00000591534.5:c.666+288G>A	ENSP00000467329.1:n.666+288G>A
ENST00000591849.5:c.-98-12855G>A	ENSP00000465347.1:n.-98-12855G>A
NM_007294.3:c.5193+288G>A , LRG_292t1:c.5193+288G>A	NP_009225.1:n.5193+288G>A
NM_007297.3:c.5052+288G>A	NP_009228.2:n.5052+288G>A
NM_007298.3:c.1881+288G>A	NP_009229.2:n.1881+288G>A
NM_007299.3:c.1881+288G>A	NP_009230.2:n.1881+288G>A
NM_007300.3:c.5256+288G>A	NP_009231.2:n.5256+288G>A
NR_027676.1:n.5329+288G>A
NM_007294.4:c.5193+288G>A MANE Select	NP_009225.1:n.5193+288G>A
NM_007297.4:c.5052+288G>A	NP_009228.2:n.5052+288G>A
NM_007299.4:c.1881+288G>A	NP_009230.2:n.1881+288G>A
NM_007300.4:c.5256+288G>A	NP_009231.2:n.5256+288G>A
NR_027676.2:n.5370+288G>A